chondrodysplasia punctata

chondrodysplasia /chon·dro·dys·pla·sia/ (-dis-pla´zhah) dyschondroplasia.

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chondrodysplasia puncta´ta  a heterogeneous group of hereditary bone dysplasias, the common characteristic of which is stippling of the epiphyses in infancy.

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chondrodysplasia punctata,

an inherited form of dwarfism characterized by skin lesions, radiographic evidence of epiphyseal stippling, and a pug nose. There are two types of the anomaly: a benign Conradi-Hünermann form marked by mild asymmetric limb shortening and a lethal rhizomelic form with marked proximal limb shortening. The Conradi-Hunermann form of the disorder is transmitted by an autosomal-dominant gene and the rhizomelic form by an autosomal-recessive gene.

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chondrodysplasia [kon″dro-dis-pla´zhah]

enchondromatosis.

chondrodysplasia puncta´ta a heterogeneous group of bone dysplasias, the common characteristic of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (rhizomelic dwarfism), an autosomal dominant form (Conradi-Hünermann syndrome), and a milder X-linked form.

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chondrodysplasia punctata (kon´drōdisplā´sh punkta´t),

n an inherited form of dwarfism characterized by skin lesions, radiographic epiphyseal stippling, and a pug nose. Two types are most often seen: a benign type marked by mild asymmetric limb shortening that is transmitted by an autosomal dominant gene and a lethal type with marked proximal limb shortening that is transmitted by an autosomal recessive gene.

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chondrodysplasia punctata

A heterogeneous group of bone dysplasias, all of which have epiphyseal stippling in infancy